From Brigham and Women's Hospital, the Broad Institute, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, the Netherlands; McMaster University and Genetic and Molecular Epidemiology Laboratory, Population Health Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada; and University of Michigan and University of Michigan School of Public Health, Ann Arbor, Michigan.

Deanna Alexis Carere, ScD, CGC

From Brigham and Women's Hospital, the Broad Institute, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, the Netherlands; McMaster University and Genetic and Molecular Epidemiology Laboratory, Population Health Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada; and University of Michigan and University of Michigan School of Public Health, Ann Arbor, Michigan.

Anke H. Maitland-van der Zee, PharmD, PhD

From Brigham and Women's Hospital, the Broad Institute, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, the Netherlands; McMaster University and Genetic and Molecular Epidemiology Laboratory, Population Health Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada; and University of Michigan and University of Michigan School of Public Health, Ann Arbor, Michigan.

Mack T. Ruffin IV, MD, MPH

From Brigham and Women's Hospital, the Broad Institute, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, the Netherlands; McMaster University and Genetic and Molecular Epidemiology Laboratory, Population Health Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada; and University of Michigan and University of Michigan School of Public Health, Ann Arbor, Michigan.

J. Scott Roberts, PhD

From Brigham and Women's Hospital, the Broad Institute, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, the Netherlands; McMaster University and Genetic and Molecular Epidemiology Laboratory, Population Health Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada; and University of Michigan and University of Michigan School of Public Health, Ann Arbor, Michigan.

Robert C. Green, MD, MPH

From Brigham and Women's Hospital, the Broad Institute, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, the Netherlands; McMaster University and Genetic and Molecular Epidemiology Laboratory, Population Health Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada; and University of Michigan and University of Michigan School of Public Health, Ann Arbor, Michigan.

† For members of the Impact of Personal Genomics Study group, see the Appendix.

From Brigham and Women's Hospital, the Broad Institute, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, the Netherlands; McMaster University and Genetic and Molecular Epidemiology Laboratory, Population Health Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada; and University of Michigan and University of Michigan School of Public Health, Ann Arbor, Michigan.

Grant Support: By the National Human Genomic Research Institute, National Institutes of Health (grant R01-HG005092). Ms. van der Wouden was supported by the K.F. Hein Fonds, De Stichting Jo Kolk Studiefonds Voor Vrouwen, and De Koninklijke Nederlandse Maatschappij Pharmacie Stipendiafonds. Dr. Carere was supported by a Canadian Institutes of Health Research Doctoral Foreign Study Award. Dr. Green was also supported by additional grants from the National Institutes of Health (grants U01-HG006500, U19-HD077671, and R01-HG002213).

Disclosures: Dr. Maitland-van der Zee reports grants from GlaxoSmithKline, Prediction Adverse Drug Reactions Project, and European—Pharmacogenomics of Anticoagulant Therapy outside the submitted work. Dr. Roberts reports grants from the National Institutes of Health and nonfinancial support from 23andMe and Pathway Genomics during the conduct of the study. Dr. Green reports grants from the National Institutes of Health during the conduct of the study; personal fees from Illumina, Invitae, Prudential, AIA, Helix, and Bina outside the submitted work; and grants from the Brin Wojcicki Foundation outside the submitted work. Authors not named here have disclosed no conflicts of interest. Forms can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=M15-0995.

Editors' Disclosures: Christine Laine, MD, MPH, Editor in Chief, reports that she has no financial relationships or interests to disclose. Darren B. Taichman, MD, PhD, Executive Deputy Editor, reports that he has no financial relationships or interests to disclose. Cynthia D. Mulrow, MD, MSc, Senior Deputy Editor, reports that she has no relationships or interests to disclose. Deborah Cotton, MD, MPH, Deputy Editor, reports that she has no financial relationships or interest to disclose. Jaya K. Rao, MD, MHS, Deputy Editor, reports that she has stock holdings/options in Eli Lilly and Pfizer. Sankey V. Williams, MD, Deputy Editor, reports that he has no financial relationships or interests to disclose. Catharine B. Stack, PhD, MS, Deputy Editor for Statistics, reports that she has stock holdings in Pfizer.

Abstract

Background:

Direct-to-consumer (DTC) personal genomic testing (PGT) allows individuals to learn about their genetic makeup without going through a physician, but some consumers share their results with their primary care provider (PCP).

Objective:

To describe the characteristics and perceptions of DTC PGT consumers who discuss their results with their PCP.

Design:

Longitudinal, prospective cohort study.

Setting:

Online survey before and 6 months after results.

Participants:

DTC PGT consumers.

Measurements:

Consumer satisfaction with the DTC PGT experience; whether and, if so, how many results could be used to improve health; how many results were not understood; and beliefs about the PCP's understanding of genetics. Participants were asked with whom they had discussed their results. Genetic reports were linked to survey responses.

Results:

Among 1026 respondents, 63% planned to share their results with a PCP. At 6-month follow-up, 27% reported having done so, and 8% reported sharing with another health care provider only. Common reasons for not sharing results with a health care provider were that the results were not important enough (40%) or that the participant did not have time to do so (37%). Among participants who discussed results with their PCP, 35% were very satisfied with the encounter, and 18% were not at all satisfied. Frequently identified themes in participant descriptions of these encounters were actionability of the results or use in care (32%), PCP engagement or interest (25%), and lack of PCP engagement or interest (22%).

Limitation:

Participants may not be representative of all DTC PGT consumers.

Conclusion:

A comprehensive picture of DTC PGT consumers who shared their results with a health care provider is presented. The proportion that shares results is expected to increase with time after testing as consumers find opportunities for discussion at later appointments or if results become relevant as medical needs evolve.